Incidental Mutation 'IGL02152:Mpp3'
ID 282088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpp3
Ensembl Gene ENSMUSG00000052373
Gene Name membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)
Synonyms Dlgh3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02152
Quality Score
Status
Chromosome 11
Chromosomal Location 101890478-101919287 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 101916216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 45 (Y45*)
Ref Sequence ENSEMBL: ENSMUSP00000102786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062801] [ENSMUST00000100400] [ENSMUST00000107167] [ENSMUST00000107168]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000062801
AA Change: Y45*
SMART Domains Protein: ENSMUSP00000055469
Gene: ENSMUSG00000052373
AA Change: Y45*

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 218 1.06e-13 SMART
SH3 229 295 7.7e-9 SMART
GuKc 384 573 1.76e-70 SMART
Predicted Effect probably null
Transcript: ENSMUST00000100400
AA Change: Y45*
SMART Domains Protein: ENSMUSP00000097969
Gene: ENSMUSG00000052373
AA Change: Y45*

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 218 1.06e-13 SMART
SH3 229 295 7.7e-9 SMART
GuKc 384 573 1.76e-70 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107167
AA Change: Y45*
SMART Domains Protein: ENSMUSP00000102785
Gene: ENSMUSG00000052373
AA Change: Y45*

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 215 5.86e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107168
AA Change: Y45*
SMART Domains Protein: ENSMUSP00000102786
Gene: ENSMUSG00000052373
AA Change: Y45*

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 218 1.06e-13 SMART
SH3 229 295 7.7e-9 SMART
GuKc 384 573 1.76e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155751
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,695,983 (GRCm39) T140A probably benign Het
4933430I17Rik T C 4: 62,460,991 (GRCm39) Y289H possibly damaging Het
Adamts17 T A 7: 66,774,748 (GRCm39) S956T probably benign Het
Adamts6 A T 13: 104,450,168 (GRCm39) S290C probably null Het
Apaf1 A T 10: 90,897,681 (GRCm39) H267Q probably benign Het
Aplp2 G A 9: 31,122,947 (GRCm39) P26L unknown Het
Arid1b C T 17: 5,364,243 (GRCm39) S1019F probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Ass1 T C 2: 31,382,336 (GRCm39) I169T probably damaging Het
Ccser1 A G 6: 61,288,692 (GRCm39) D285G possibly damaging Het
Cenpf A G 1: 189,381,209 (GRCm39) V2737A probably benign Het
Chrm5 A G 2: 112,310,913 (GRCm39) Y68H probably damaging Het
Cops4 A G 5: 100,681,456 (GRCm39) T164A probably benign Het
Cox4i1 A G 8: 121,399,604 (GRCm39) S72G probably benign Het
Cpox A G 16: 58,494,787 (GRCm39) T275A possibly damaging Het
Cyb5a T C 18: 84,891,281 (GRCm39) I68T probably benign Het
Efna5 T C 17: 62,958,055 (GRCm39) D67G probably benign Het
Enpp3 T C 10: 24,649,900 (GRCm39) E842G probably damaging Het
Fam210b A G 2: 172,193,423 (GRCm39) K79E probably benign Het
Gm4799 T C 10: 82,790,589 (GRCm39) noncoding transcript Het
Gpr146 A T 5: 139,378,467 (GRCm39) R90W probably damaging Het
H2ac10 A G 13: 23,718,451 (GRCm39) H124R probably benign Het
Hal A G 10: 93,339,404 (GRCm39) I498V possibly damaging Het
Hnrnpm C T 17: 33,877,386 (GRCm39) G365R probably damaging Het
Jakmip3 A G 7: 138,627,217 (GRCm39) D407G probably damaging Het
Kank1 A G 19: 25,405,536 (GRCm39) I1185V possibly damaging Het
Kcnj16 A T 11: 110,916,036 (GRCm39) M233L probably benign Het
Klhl5 A T 5: 65,306,143 (GRCm39) Q370L probably damaging Het
L3hypdh C T 12: 72,123,917 (GRCm39) probably null Het
Las1l A G X: 94,996,908 (GRCm39) V130A probably damaging Het
Liat1 A G 11: 75,894,051 (GRCm39) I143V probably benign Het
Lrp2bp A T 8: 46,476,081 (GRCm39) Y274F probably damaging Het
Morc2b T A 17: 33,356,917 (GRCm39) K285M probably damaging Het
Muc4 T A 16: 32,598,023 (GRCm39) probably benign Het
Muc5ac T C 7: 141,353,914 (GRCm39) C837R possibly damaging Het
Nr2f6 T A 8: 71,828,810 (GRCm39) I155F probably damaging Het
Nsg1 A G 5: 38,302,145 (GRCm39) F50L probably benign Het
Or14a258 T A 7: 86,035,251 (GRCm39) M206L probably benign Het
Ostf1 C A 19: 18,567,822 (GRCm39) G101C probably damaging Het
Pam C T 1: 97,768,474 (GRCm39) R552Q probably damaging Het
Pkd1l3 A G 8: 110,395,924 (GRCm39) N2108S probably damaging Het
Prkdc A T 16: 15,487,149 (GRCm39) H484L probably benign Het
Pwwp3a A G 10: 80,075,812 (GRCm39) D466G probably damaging Het
Rfx5 G A 3: 94,864,493 (GRCm39) R213Q probably damaging Het
Ryr1 T C 7: 28,751,440 (GRCm39) S3715G possibly damaging Het
Sall2 A G 14: 52,552,971 (GRCm39) S73P probably damaging Het
Sec22c G A 9: 121,513,845 (GRCm39) A264V probably benign Het
Sis A C 3: 72,796,319 (GRCm39) probably benign Het
Spam1 T A 6: 24,800,802 (GRCm39) probably benign Het
Spmip2 T C 3: 79,252,839 (GRCm39) I18T possibly damaging Het
St13 T A 15: 81,250,583 (GRCm39) I318F probably damaging Het
Syne1 T C 10: 5,374,382 (GRCm39) I142V probably damaging Het
Tasor2 C T 13: 3,635,371 (GRCm39) E479K probably benign Het
Trpm6 A T 19: 18,809,903 (GRCm39) T1100S possibly damaging Het
Ttll6 G A 11: 96,026,366 (GRCm39) W90* probably null Het
Txndc12 T A 4: 108,691,989 (GRCm39) C9* probably null Het
Ubr7 C T 12: 102,734,535 (GRCm39) Q270* probably null Het
Vps33b A G 7: 79,934,817 (GRCm39) S302G probably benign Het
Xylt1 T A 7: 117,233,997 (GRCm39) V508E probably damaging Het
Zbtb26 A T 2: 37,326,703 (GRCm39) L111Q possibly damaging Het
Zfp410 T C 12: 84,379,702 (GRCm39) probably benign Het
Zscan18 A T 7: 12,509,223 (GRCm39) probably benign Het
Other mutations in Mpp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Mpp3 APN 11 101,892,929 (GRCm39) missense possibly damaging 0.76
IGL01337:Mpp3 APN 11 101,891,411 (GRCm39) missense probably benign
IGL01393:Mpp3 APN 11 101,916,304 (GRCm39) missense probably damaging 0.99
IGL01544:Mpp3 APN 11 101,909,485 (GRCm39) missense possibly damaging 0.91
IGL02441:Mpp3 APN 11 101,900,501 (GRCm39) missense probably benign 0.00
IGL02656:Mpp3 APN 11 101,899,427 (GRCm39) missense probably benign
R0013:Mpp3 UTSW 11 101,896,251 (GRCm39) missense probably benign 0.27
R0117:Mpp3 UTSW 11 101,891,399 (GRCm39) missense probably damaging 1.00
R0564:Mpp3 UTSW 11 101,896,173 (GRCm39) missense possibly damaging 0.87
R1372:Mpp3 UTSW 11 101,891,401 (GRCm39) missense probably damaging 0.96
R1531:Mpp3 UTSW 11 101,899,475 (GRCm39) missense probably benign
R1639:Mpp3 UTSW 11 101,914,268 (GRCm39) missense probably damaging 1.00
R1720:Mpp3 UTSW 11 101,916,582 (GRCm39) start codon destroyed possibly damaging 0.79
R1968:Mpp3 UTSW 11 101,909,378 (GRCm39) intron probably benign
R2064:Mpp3 UTSW 11 101,891,516 (GRCm39) missense probably benign 0.01
R2363:Mpp3 UTSW 11 101,911,312 (GRCm39) missense probably damaging 1.00
R3775:Mpp3 UTSW 11 101,914,193 (GRCm39) nonsense probably null
R3776:Mpp3 UTSW 11 101,914,193 (GRCm39) nonsense probably null
R4208:Mpp3 UTSW 11 101,891,426 (GRCm39) missense probably benign
R4287:Mpp3 UTSW 11 101,914,289 (GRCm39) missense probably damaging 1.00
R4327:Mpp3 UTSW 11 101,914,337 (GRCm39) intron probably benign
R4329:Mpp3 UTSW 11 101,914,337 (GRCm39) intron probably benign
R4367:Mpp3 UTSW 11 101,914,246 (GRCm39) missense probably benign 0.01
R4856:Mpp3 UTSW 11 101,915,962 (GRCm39) missense probably benign
R4886:Mpp3 UTSW 11 101,915,962 (GRCm39) missense probably benign
R4904:Mpp3 UTSW 11 101,891,413 (GRCm39) missense probably benign 0.01
R4946:Mpp3 UTSW 11 101,895,848 (GRCm39) missense probably benign 0.01
R5405:Mpp3 UTSW 11 101,901,047 (GRCm39) missense probably benign
R5935:Mpp3 UTSW 11 101,916,241 (GRCm39) missense probably damaging 1.00
R6020:Mpp3 UTSW 11 101,909,365 (GRCm39) intron probably benign
R6056:Mpp3 UTSW 11 101,902,515 (GRCm39) splice site probably null
R6151:Mpp3 UTSW 11 101,899,392 (GRCm39) missense probably benign 0.11
R6677:Mpp3 UTSW 11 101,899,444 (GRCm39) missense probably benign
R6784:Mpp3 UTSW 11 101,892,974 (GRCm39) critical splice acceptor site probably null
R6855:Mpp3 UTSW 11 101,904,151 (GRCm39) missense probably benign 0.09
R7227:Mpp3 UTSW 11 101,895,904 (GRCm39) missense possibly damaging 0.90
R7635:Mpp3 UTSW 11 101,916,209 (GRCm39) missense probably damaging 0.97
R7974:Mpp3 UTSW 11 101,899,180 (GRCm39) critical splice donor site probably null
R8330:Mpp3 UTSW 11 101,899,453 (GRCm39) missense probably benign 0.20
R8331:Mpp3 UTSW 11 101,902,541 (GRCm39) splice site probably null
R8993:Mpp3 UTSW 11 101,891,491 (GRCm39) missense probably benign 0.03
R9154:Mpp3 UTSW 11 101,911,328 (GRCm39) missense
R9593:Mpp3 UTSW 11 101,907,506 (GRCm39) missense possibly damaging 0.88
R9655:Mpp3 UTSW 11 101,899,481 (GRCm39) missense probably benign
Z1176:Mpp3 UTSW 11 101,899,182 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16